Hereditary Neuropathy_CMT - isolated
Gene: PRDM12
Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production.
Well established gene-disease association, more than 10 unrelated families reported.Created: 11 May 2021, 5:31 a.m. | Last Modified: 11 May 2021, 5:31 a.m.
Panel Version: 0.137
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Publications
Gene: prdm12 has been classified as Green List (High Evidence).
Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN
Publications for gene: PRDM12 were set to
gene: PRDM12 was added gene: PRDM12 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN